Canonical Allele Identifier: CA2629878563

Gene: FAH

Linked Data

• gnomAD v4: 15-80162525-TGTGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162526_80162531del , CM000677.2:g.80162526_80162531del	GRCh38
NC_000015.9:g.80454868_80454873del , CM000677.1:g.80454868_80454873del	GRCh37
NC_000015.8:g.78241923_78241928del	NCBI36
NG_012833.1:g.14528_14533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*162_*167del	ENSP00000507680.1:n.*162_*167del
ENST00000682012.1:n.530+190_530+195del
ENST00000683593.1:n.2308_2313del
ENST00000684363.1:c.499_504del	ENSP00000507314.1:n.499_504del
ENST00000684569.1:n.500+190_500+195del
ENST00000561421.6:c.455+190_455+195del MANE Select	ENSP00000453347.2:n.455+190_455+195del
ENST00000646551.1:n.1942+190_1942+195del
ENST00000261755.9:c.455+190_455+195del	ENSP00000261755.5:n.455+190_455+195del
ENST00000407106.5:c.455+190_455+195del	ENSP00000385080.1:n.455+190_455+195del
ENST00000537726.5:n.791_796del
ENST00000539156.5:c.245+190_245+195del	ENSP00000454271.1:n.245+190_245+195del
ENST00000558022.5:c.455+190_455+195del	ENSP00000453152.1:n.455+190_455+195del
ENST00000558627.1:n.383+190_383+195del
ENST00000558767.5:n.906_911del
ENST00000561421.5:c.455+190_455+195del	ENSP00000453347.1:n.455+190_455+195del
NM_000137.2:c.455+190_455+195del	NP_000128.1:n.455+190_455+195del
XM_024449872.1:c.455+190_455+195del	XP_024305640.1:n.455+190_455+195del
NM_000137.4:c.455+190_455+195del MANE Select	NP_000128.1:n.455+190_455+195del
NM_001374377.1:c.455+190_455+195del	NP_001361306.1:n.455+190_455+195del
NM_001374380.1:c.455+190_455+195del	NP_001361309.1:n.455+190_455+195del